The Association of Carpenter Syndrome and Situs Inversus Totalis: First Case Report
dc.contributor.author | Altunhan, Hüseyin | |
dc.contributor.author | Annagür, Ali | |
dc.contributor.author | Örs, Rahmi | |
dc.date.accessioned | 2020-03-26T18:16:34Z | |
dc.date.available | 2020-03-26T18:16:34Z | |
dc.date.issued | 2011 | |
dc.department | Selçuk Üniversitesi | en_US |
dc.description.abstract | Carpenter syndrome (acrocephalopolysyndactyly type II) is a rare autosomal recessive disorder that classically consists of acrocephaly, facial dysmorphism, mental retardation, congenital heart disease and hypogenitalism. To the best of our knowledge, situs inversus totalis has not been demonstrated previously in Carpenter syndrome. We report here a 6-day-old boy with many abnormalities diagnosed clinically and also having situs inversus totalis. As far as we know, this is the first Carpenter syndrome case associated with situs inversus totalis in the literature. | en_US |
dc.identifier.doi | 10.5336/medsci.2010-19822 | en_US |
dc.identifier.endpage | 467 | en_US |
dc.identifier.issn | 1300-0292 | en_US |
dc.identifier.issue | 2 | en_US |
dc.identifier.scopusquality | Q4 | en_US |
dc.identifier.startpage | 464 | en_US |
dc.identifier.uri | https://dx.doi.org/10.5336/medsci.2010-19822 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12395/26890 | |
dc.identifier.volume | 31 | en_US |
dc.identifier.wos | WOS:000291330700028 | en_US |
dc.identifier.wosquality | Q4 | en_US |
dc.indekslendigikaynak | Web of Science | en_US |
dc.indekslendigikaynak | Scopus | en_US |
dc.language.iso | en | en_US |
dc.publisher | ORTADOGU AD PRES & PUBL CO | en_US |
dc.relation.ispartof | TURKIYE KLINIKLERI TIP BILIMLERI DERGISI | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.selcuk | 20240510_oaig | en_US |
dc.subject | Situs inversus | en_US |
dc.subject | craniosynostoses | en_US |
dc.subject | mental retardation | en_US |
dc.subject | craniofacial abnormalities | en_US |
dc.subject | syndactyly | en_US |
dc.title | The Association of Carpenter Syndrome and Situs Inversus Totalis: First Case Report | en_US |
dc.type | Article | en_US |